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世界核心医学期刊文摘（神经病学分册） 2006年第6期2卷 29-29页

作者： Eckert T. Peschel T. Heinze H.-J. Rotte m. 周永 Dept. of Neurology II University of Magdeburg Leipziger Str. 44 39120 Magdeburg Germany Dr.

The slowness of movement, termed bradykinesia, is one of the main symptoms of Parkinson’s disease (PD). This symptom may be due to the inability of PD patients to maximise the speed of internally driven movements. The mesial premotor areas nd in particular the pre-supplementary motor area (pre-SmA) seem to play a crucial role in the temporal initiation of movements in humans and animals. However, this activation seems to be debatable in imaging studies of PD patients. We performed a motor paradigm with temporally self-initiated movements in nine de novo PD patients before and after initiation of dopaminergic medication. The main finding was an increased activation of the pre-SmA in de novo PD patients compared with healthy age-matched control subjects. This result indicates the contribution of the pre-SmA in the temporal initiation of self-generated movemen ts and in the disease pathology of PD. Increased bilateral activation of the sup erior cerebellum, mainly on the ipsilateral side, and a decreased activation of the ipsilateral inferior cerebellum in PD patients were also present. These find ings provide new insights into the activation pattern of the cerebellum in PD pa tients.

关键词：运动前患者活化运动过程皮质自主手部单纯早期

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维普期刊数据库

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体位性低血压和晕厥与ChiariⅠ型畸形有关

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世界核心医学期刊文摘（神经病学分册） 2005年第10期1卷 36-36页

作者： Prilipko O. Dehdashti A.R. Zaim S. Seeck m. 方伯言 Presurgical Epilepsy Evaluation Unit Department of Neurology H.eve 24 opital Cantonal Universitaire de Gen' rue Micheli-du-Crest CH-1211 Gen'eve 14 Switzerland Dr.

The Chiari type I malformation (Cm1) is characterized by herniation of cerebe llar tonsils to at least 3- 5 mm below the plane of foramen magnum and can pres ent with a wide variety of clinical symptoms, frequently including occipital hea daches, secondary to bulbar and/or medullary distress. Rarely, syncopal episodes have also been described and attributed to either compression of the midbrain a scending reticular system, or vascular compromise (vertebrobasilar artery compre ssion, hypotension). We report the first case of a Cm1 patient with frequently r ecurring syncope due to postural orthostatic tachycardia syndrome (POTS), a form of orthostatic intolerance, whose symptoms resolved completely after surgical i ntervention. It is important to stress that it is not clear whether the describe d association of POTS and Cm1 in our patient is a fortuitous finding in an isola ted case or a reflection of a more systematic association between the two pathol ogies.

关键词： Chiari 体位性低血压小脑扁桃体疝心动过速枕骨大孔枕部疼痛基底动脉 POTS 调节中枢临床症状

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维普期刊数据库

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常染色体显性遗传性桥粒芯糖蛋白1基因突变引起的局限性掌跖角化病

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世界核心医学期刊文摘（皮肤病学分册） 2006年第4期2卷 45-45页

作者： milingou m. Wood P. masouyé I. L. Borradori 罗素菊徐波 Clinique de Dermatologie Hopital Cantonal Universitaire Rue Micheli- du- Crest 24 CH- 1211 Gen` eve Switzerland

Background: Palmoplantar keratodermas (PPK) encompass a large genetically heterogeneous group of diseases associated with hyperkeratosis of the soles andor palms that occur either isolated or in association with other cutaneous and extracutaneous manifestations. Pathogenic mutations in the desmoglein 1 gene (DSG1) have recently been identified in a subset of patients with the striate type of PPK. Observation: We have identified a patient with a focal non- striated form of PPK associated with discrete troubles of keratinisation at sites exposed to mechanical trauma, such as the knees, ankles or finger knuckles, and with mild nail dystrophy. Genetic analyses disclosed a novel dominantly inherited heterozygous single base insertion in exon 3 of DSG1, 121insT, leading to a premature termination codon. The mutation was also present in the father and in a sister. Conclusion: Our observation extends the spectrum of clinical features associated with genetic defects in DSG1 and provides further evidence that perturbation of desmoglein 1 expression has a critical impact on the integrity of tissues experiencing strong mechanical stress.

关键词：桥粒芯糖蛋白基因突变掌跖角化病过度角化条纹状甲营养不良碱基插入外伤部位基因分析基因

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维普期刊数据库

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